Canonical Allele Identifier: CA447179955

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639468T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259907T>C , CM000667.2:g.151259907T>C	GRCh38
NC_000005.9:g.150639468T>C , CM000667.1:g.150639468T>C	GRCh37
NC_000005.8:g.150619661T>C	NCBI36
NG_009059.1:g.11856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.234T>C MANE Select	ENSP00000349687.3:p.Ser78=
ENST00000357164.3:c.234T>C	ENSP00000349687.3:p.Ser78=
ENST00000523004.1:c.109T>C
ENST00000523466.5:c.279T>C	ENSP00000429100.1:p.Ser93=
NM_000405.4:c.234T>C	NP_000396.2:p.Ser78=
NM_001167607.1:c.234T>C	NP_001161079.1:p.Ser78=
NM_000405.5:c.234T>C MANE Select	NP_000396.2:p.Ser78=
NM_001167607.2:c.234T>C	NP_001161079.1:p.Ser78=
NM_001167607.3:c.234T>C	NP_001161079.1:p.Ser78=